ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5794A>T (p.Thr1932Ser) (rs777604445)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457967 SCV000552492 uncertain significance Familial adenomatous polyposis 1 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 1932 of the APC protein (p.Thr1932Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs777604445, ExAC 0.003%). This variant has not been reported in the literature in individuals with an APC-related disease. ClinVar contains an entry for this variant (Variation ID: 411367). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on APC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000561037 SCV000667267 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
PreventionGenetics,PreventionGenetics RCV000679070 SCV000805440 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing
Color RCV000561037 SCV000911520 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-20 criteria provided, single submitter clinical testing

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